Allele Registry

Canonical Allele Identifier: PA658664532

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000560347

RCV001508705

RCV001783032

ClinVar Variation:

458260

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Tyr867His	CA6911660 NM_014363.6:c.2599T>C